Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation

OBJECTIVE: De novo missense mutations in the RHOBTB2 gene have been described as causative for developmental and epileptic encephalopathy. METHODS: The clinical phenotype of this disorder includes early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and movement disorder. Th...

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Detalles Bibliográficos
Autores principales: Knijnenburg, Annemarie C.S., Nicolai, Joost, Bok, Levinus A., Bay, Akin, Stegmann, Alexander P.A., Sinnema, Margje, Vreeburg, Maaike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164965/
https://www.ncbi.nlm.nih.gov/pubmed/32337345
http://dx.doi.org/10.1212/NXG.0000000000000418

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164965/
https://www.ncbi.nlm.nih.gov/pubmed/32337345
http://dx.doi.org/10.1212/NXG.0000000000000418

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